ClinVar Miner

List of variants in gene SH3TC2 reported as pathogenic for Charcot-Marie-Tooth disease

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Total variants: 8
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter)
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.2989del (p.Arg997fs)
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.3(SH3TC2):c.688del (p.Val230fs)
NM_024577.3(SH3TC2):c.957del (p.Phe320fs) rs1554122541

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